Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

Unusual results are those that have a very low chance of occurring. Unusual results can be identified using probabilities and the range rule of thumb. In problems involving probability, unusual results can be observed in 2 instances – an unusually high number of successes or an unusually low number of successes.
According to the range rule of thumb, any value above or below two standard deviations, 2σ  from the mean, μ  is considered unusual.
Maximum unusual value =...

The z score is one of the three measures of relative standing. It describes the location of a value in a dataset relative to the mean. z scores are obtained after the standardization of the values in a dataset. The z score for the mean is 0.
 This score indicates how far a value is from the mean in terms of standard deviation. For example, if a data value has a z score of +1, the researcher can infer that the particular data value is one standard deviation above the mean. If another data...

Overview

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).